Neurotransmitter alterations in embryonic succinate semialdehyde dehydrogenase (SSADH) deficiency suggest a heightened excitatory state during development
2008

Neurotransmitter Changes in SSADH Deficiency During Development

Sample size: 15 publication Evidence: moderate

Author Information

Author(s): Jansen Erwin EW, Struys Eduard, Jakobs Cornelis, Hager Elizabeth, Snead O Carter, Gibson K Michael

Primary Institution: VU Medical Center, Amsterdam, the Netherlands

Hypothesis

GABA might be significantly elevated in embryonic Aldh5a1-/- mice.

Conclusion

The study found early GABAergic alterations in Aldh5a1-/- mice, which may lead to a heightened excitatory state and predispose them to epilepsy.

Supporting Evidence

  • GABA and DHHA were significantly elevated at all gestational ages in Aldh5a1-/- mice.
  • GHB and D-2-HG increased linearly with gestational age.
  • Correlative studies in human amniotic fluid from SSADH-deficient pregnancies revealed significantly increased GABA.

Takeaway

Mice with a specific genetic condition have too much of a brain chemical called GABA while they are still developing, which might make them more likely to have seizures later.

Methodology

Embryos were obtained from pregnant mice and metabolites were quantified using isotope dilution mass spectrometry.

Limitations

The study did not isolate neural tissue from embryos, which may limit the understanding of GABA's role in the brain specifically.

Participant Demographics

Mice (Aldh5a1+/+ and Aldh5a1-/-) were used in the study.

Statistical Information

P-Value

p<0.05

Statistical Significance

p<0.05

Digital Object Identifier (DOI)

10.1186/1471-213X-8-112

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